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A group of inherited blood defects is known as Thalassemia is among the world’s most prevalent hemoglobinopathies.
Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations
leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these
proteins may...
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Thalassemia major (TM) is a hereditary disease caused by defective globin synthesis. Because of the significant increase in life expectancy, these patients are suffering from various health conditions, including endocrinopathies and low bone mineral density. The aim of the present study was to investigate the correlation between clinical and bioche...
Citations
... This pathology alters the formation of this blood component and is also called Mediterranean disease, since the first recorded cases predominated in natives who were close to this region. This led to the first descriptions and explanations of thalassemia around 1932 Shafique et al., 2023). ...
... They are divided into two large groups: thalassemia syndromes, which result in severe anemia and other serious complications, and structural hemoglobin anomalies, which result in hemoglobin malfunction. Both are caused by defects in the alpha or beta genes (Shafique et al., 2023). ...
Thalassemia is a hereditary genetic disease that is characterized by changes in the conformation of hemoglobin. This pathology includes different types of blood changes that are characterized by lower levels or the absence of normal globin chains in hemoglobin. With the aim of contributing to the reduction of damage caused by thalassemia, the present study aims to promote awareness about the importance of early diagnosis of thalassemia, aiming to reduce health complications and improve patients' quality of life through medical interventions and support. adequate. To carry out this literature review on thalassemia, we will adopt an integrative analytical approach of searching and analyzing relevant studies. Initially, databases relevant to the area were selected, such as PubMed, Scopus, Web of Science. This study highlights the significance of early diagnosis of thalassemia as a crucial measure in the effective management of this genetic condition. Early identification not only allows for the implementation of appropriate medical interventions and treatments, but also helps reduce health complications and improve patients' quality of life.
... Thalassemia is a common hemoglobinopathy disorder called alpha-thalassemia or beta-thalassemia, depending on whether the defect is in the alpha or beta chain [31] . In thalassemia major, the homozygous form of beta-thalassemia, no beta chains are produced, but in thalassemia intermedia, there is a decrease in the production of beta chains. ...
The concentration of iron is tightly regulated, making it an essential element. Various cellular processes in the body rely on iron, such as oxygen sensing, oxygen transport, electron transfer, and DNA synthesis. Iron excess can be toxic because it participates in redox reactions that catalyze the production of reactive oxygen species (ROS) and elevate oxidative stress. Iron chelators are chemically diverse; they can coordinate six ligands in an octagonal sequence. Because of the ability of chelators to trap essential metals, including iron, they may involve in diseases caused by oxidative stress, such as infectious diseases, cardiovascular diseases, neurodegenerative diseases, and cancer. Iron chelating agents, by tightly binding to iron, prohibit it from functioning as a catalyst in redox reactions and transfer iron and excrete it from the body. Thus, using iron chelators as therapeutic agents has received increasing consideration. This review investigates the function of various iron chelators in treating iron overload in different clinical conditions.
... Depending on the affected chain, thalassemias are categorized as α, β, γ, δ, δβ, or εγδβ. The α and β thalassemia, resulting from mutations in the primary polypeptide chains (α or β) of the adult hemoglobin molecule (Hb A, α2β2), hold the most clinical significance (1)(2)(3)(4). In these variants, an imbalanced alpha-to-beta chain ratio induces the accumulation of surplus chains, instigating premature degradation of erythroid precursors in both the bone marrow (ineffective erythropoiesis) and the bloodstream (hemolysis). ...
Introduction: Thalassemia, particularly α and β types, are characterized by mutations causing varied clinical manifestations such as anemia, skeletal deformities, and iron accumulation. Patients with transfusion-dependent thalassemia (TDTs) often face growth and puberty complications, which are influenced by the disease's type and severity. These disruptions not only result from chronic anemia, iron chelation therapy, and endocrinopathies but also significantly impact the patient's quality of life. Methods: A comprehensive guideline was formulated through a systematic literature review and stakeholder engagements. The protocol emphasizes diagnosing and managing growth and puberty disorders in TDT patients, integrating consistent monitoring, documentation, and patient-specific assessments. Results: The guideline proposes a detailed monitoring schedule from birth to adulthood, focusing on growth velocity norms and referral criteria to pediatric endocrinologists. It outlines protocols for hormone treatments in cases of delayed or arrested puberty, with distinctions for boys and girls. The treatment approach is multidisciplinary, combining growth monitoring, hormone therapy, and potential surgical interventions. The complexities demand continuous management, with treatment plans tailored to individual patient needs. Conclusions: The research provides a pivotal national protocol for addressing growth and puberty anomalies in TDT patients, aiming to enhance their well-being and standardize care. The emphasis on proactive, individualized strategies will bolster healthcare outcomes and reduce associated costs.
... Since it was first identified in 1925, scientists have been unable to develop a long-term remedy for this fatal illness. A complete study of how this disease works at the molecular level could give new ideas for how to treat it (Shafique et al., 2021). ...
The most prevalent monogenic hematologic illnesses worldwide are thalassemias. Unfortunately, thalassemia transplants make up a very small percentage of all transplants performed worldwide. Therefore, it is imperative that organisations such as the Worldwide Network for Blood and Marrow Transplantation collaborate in order to establish and sustain dedicated transfusion and transplant initiatives aimed at addressing thalassemia in nations where Hematopoietic cell transplantation (HCT) has become a safer procedure and can be utilised to treat a broader spectrum of ailments due to advancements in transplantation techniques and supportive medical practises. However, it is still difficult to choose suitable transplant candidates.
... The normal composition of the hemoglobin molecule requires two alpha and two beta protein chains. In thalassemia, this balance is disturbed by a defective chain, resulting in two primary types: alphaand beta-thalassemia (Shafique et al., 2021;Yengil et al., 2014). Normally, four genes are involved in the synthesis of alpha-globulin, two of which are inherited from each parent. ...
This study examines the relationship between thalassemia, an inherited blood disorder, and depression, a psychologically debilitating illness. Thalassemia, which is characterized by insufficient hemoglobin production, significantly affects the quality of life and well-being of patients. As more effective treatment and even a cure for thalassemia have become possible, attention is being drawn to the assessment of depression, which is common among those affected. In addition to investigating the relationship between depression and thalassemia, this research also aims to provide a basis for patient rehabilitation. The study is conducted with a sample of 60 subjects consisting of thalassemia and non-thalassemia children aged 4 to 14 years from different areas of the province. The Beck Depression Inventory scale’s second revision has been used for this purpose. The results confirmed the hypothesis that there is a positive correlation between thalassemia and depression. Statistical analysis was performed using SPSS t -test and revealed a significant level of comorbidity with a calculated coefficient alpha of 0.768, mean of 41.40, standard deviation (SD) of 2.009, Cohen’s d of 0.188, and significance of 0.50. These results are consistent with the previous research conducted by the Iranshahr Institute (2014-2015) indicating a marked occurrence of depression in thalassemia patients. This research is needed overall to understand the relationship between mental health problems and thalassemia. However, the scope of the study is limited to a local hospital with challenges such as language barriers and cultural stigma. Despite these limitations, this study highlights the need for further research on depression in thalassemia patients and suggests avenues for future research and therapeutic rehabilitation interventions. In addition, this topic can be further researched, as diseases such as thalassemia pose great challenges in dealing with those affected. It can also help parents support the suffering child in coping with the psychological burden of the physical illness.
... α-Thalassemia is classified into four categories, namely, α-thalassemia silent (-α/ αα or α T α/αα), α-thalassemia minor (--/αα, -α/-α, -α/α T α or α T α/α T α), α-thalassemia intermedia or HbH disease (--/-α or --/α T α), and α-thalassemia major or Hb Bart's hydrops fetalis syndrome, according to the number of affected copies of the α-globin gene [1]. β-Thalassemia is categorized into β-thalassemia minor (β + /β N or β 0 /β N ), β-thalassemia intermedia (β + /β + or β + /β 0 ), and β-thalassemia major (β 0 /β 0 or β 0 /β + ) types (because β + includes both mildly and severely pathogenic variations, β + /β0 may show characteristics of β-thalassemia intermedia or major depending on the specific pathogenicity of the β + variation) [2,3]. Notably, an Asian prevalent missense mutation in HBB gene (c.26G ...
Background
Shenzhen is one of the most populated metropolises in southern China where thalassemia is highly prevalent. The prevention of thalassemia inheritance is an ambition of child-bearing couples.
Methods and results
A total of 22,098 peripheral blood samples were collected from 11,049 potentially at-risk couples of childbearing age from Shenzhen. Thalassemia mutations were determined by PCR-based flow-through hybridization. The results identified 45.02% of the participants (9948 out of 22,098) as harboring globin gene mutations, distributed into 18 α-thalassemia alleles detected in 71.48% (7111 out of 9948) and 15 β-thalassemia alleles detected in 32.68% (3252 out of 9948) of all mutant individuals, among which 415 individuals carried both α- and β-thalassemia alleles. The most frequent phenotypes for α-globin variations were --SEA/αα (63.37%), -α3.7/αα (18.66%), and -α4.2/αα (7.31%), and those for β-globin variations were β41–42/βN (34.96%), β⁶⁵⁴/βN (28.11%), and β¹⁷/βN (13.84%). A total of 970 high-risk couples who could possibly give birth to offspring with thalassemia intermedia or major were identified. In addition, the hematological indices were compared among thalassemia genotypes. Significant differences in MCH, MCV, Hb A, and Hb A2 levels among α-thalassemia minor (α+), trait (α0), and intermediate phenotypes (P < 0.05) and between βE/βN and the other β-thalassemia phenotypes (P < 0.05) were found. Moreover, GAP-PCR and next-generation sequencing further identified 42 rare mutations, 13 of which were first reported in the Chinese population. A novel mutation in the β-globin gene (HBB: c.246 C > A (rs145669504)) was also discovered.
Conclusions
This study presented a comprehensive analysis of thalassemia variations in a population from Shenzhen and may offer valuable insights for thalassemia control and intervention strategies in this area.
... 10 Caracterizada pela produção quase nula de HbA, o manejo da ß-talassemia requer maior demanda de transfusões sanguíneas frequentes, além do uso de fármacos quelantes pela sobrecarga de ferro ocasionada pelo processo transfusional. 11,12 Há, assim, uma necessidade em conhecer a fundo a população a fim de desenvolver políticas públicas tanto para fornecer melhores condições de assistência à saúde quanto para prevenir impactos orçamentários. Uma sessão de terapia transfusional pode variar de R$ 1.119,69 a R$ 1.905,18, levando a um custo mensal, por paciente, entre quatro e oito mil reais para o Sistema Único de Saúde (SUS). ...
O objetivo do presente estudo foi analisar o Índice de Mentzer como adjuvante no diagnóstico do traço talassêmico da beta-talassemia, visto que, na sua forma homozigota a talassemia beta possui clínica distinta da anemia ferropriva ou ainda do traço beta-talassêmico, culminando em uma anemia hemolítica com sintomas de hemólise excessiva cursando com esplenomegalia, anemia com deficiência de hemoglobina importante, hiperplasia de medula óssea e, em alguns casos, necessidade iminente de transfusão sanguínea. Trata-se de uma revisão integrativa sobre o índice de Mentzer. Procedeu-se uma revisão bibliográfica nas bases de dados eletrônicas PUBMED, SciELO e Periódicos CAPES entre 2016 e 2021. Foram incorporados no presente estudo 12 manuscritos a serem revisados os quais necessitavam relacionar o índice de Mentzer a diferenciação de traço de beta-talassemia de anemia ferropênica. Após leitura e análise dos artigos relacionados para este estudo mostrou-se que o índice de Mentzer pode ser recomendado para diferenciação entre as duas patologias com uma boa sensibilidade e especificidade para o traço relacionado a beta-talassemia, entretanto, em caso de dúvidas entre anemia ferropênica e beta-talassemia deve ser realizado um estudo com eletroforese de hemoglobinas. Portanto, conclui-se que na ausência da possibilidade da realização de uma eletroforese de hemoglobinas ou análise de hemoglobina por HPLC pode ser utilizado o índice de Mentzer para diferenciação entre anemia ferropênica e o respectivo traço beta-talassemico e início ao tratamento, contudo, cabe ressaltar que na ausência de resposta a terapia a eletroforese de hemoglobinas ou análise de hemoglobina por HPLC torna-se exame indispensável.
... Common symptoms include: pale skin, deformed facial or skeletal bones, and arrhythmias (Bajwa & Basit, 2019). Symptoms may be absent in silent carriers of α-thalassemia (Shafique et al., 2021). For diagnosis, measurements of the mean corpuscular volume (MCV) of individual RBCs are used to differentiate between IDA and thalassemia (Galanello & Origa, 2010;Muncie HL & Campbell, 2009). ...
Iron in blood cells has several physiological functions like transporting oxygen to cells and maintaining iron homeostasis. Iron is primarily contained in red blood cells (RBCs), but monocytes also store iron as these cells are responsible for the recycling of senescent RBCs. Iron also serves an important role related to the function of different leukocytes. In inflammation, iron homeostasis is dependent on cytokines derived from T cells and macrophages. Fluctuations of iron content in the body lead to different diseases. Iron deficiency, which is also known as anemia, hampers different physiological processes in the human body. On the other hand, genetic or acquired hemochromatosis ultimately results in iron overload and leads to the failure of different vital organs. Different diagnoses and treatments are developed for these kinds of disorders, but the majority are costly and suffer from side effects. To address this issue, magnetophoresis could be an attractive technology for the diagnosis (and in some cases treatment) of these pathologies due to the paramagnetic character of the cells containing iron. In this review, we discuss the main functions of iron in blood cells and iron‐related diseases in humans and highlight the potential of magnetophoresis for diagnosing and treating some of these disorders.
... [3] The production of RBC declines due to premature death, apoptosis, thin lysis, and final necrosis of erythroid precursors. [4] Newborns with β-TM appear the same as other newborns at birth because fetal Hb dominates a pregnant woman's bloodstream. [5] The infant may develop anemia months after switching from gamma to beta globulin. ...
... According to the type of defective gene, thalassemias are divided into α-, β-, γ-, δ-, δβ-, and εγδβ-thalassemias. Among them, α-thalassemia (α-thal) and β-thalassemia (β-thal) were the two main types (Barnett, 2019;Shafique et al., 2021;De Simone et al., 2022). Carriers of thalassemia mutations account for about 5% of the global population, particularly in tropical and subtropical areas, for instance, North Africa, the Mediterranean region, India, Southeast Asia, Pakistan, and the Middle East (Merkeley and Bolster, 2020). ...
... Human hemoglobin has three different developmental stages in the embryo, fetus, and adult. At the molecular level, hemoglobin synthesis is determined by two multigene clusters which are located in chromosome 16 and chromosome 11, respectively (Merkeley and Bolster, 2020;Shafique et al., 2021). The underlying molecular defects in the α-globin or β-globin gene clusters constitute the foundation of hemoglobin synthesis defects and the various genetic forms of α-or β-thal (Taher et al., 2018;Viprakasit and Ekwattanakit, 2018). ...
Our aim was to investigate molecular features of thalassemia for proper clinical consultation and prevention in Heyuan. In our research, a total of 25,437 positive screening subjects were further subjected to a genetic analysis of α-thalassemia (α-thal) and β-thalassemia (β-thal). The deletion of α-thal mutation was tested by Gap-PCR, while the non-deletion of α-thal and β-thal mutation were identified by the PCR-reverse dot blot (PCR-RDB) technique. Nested PCR detected Hkαα/-- SEA and Hkαα/αα. Among the 25,437 positive screening subjects, 44.09% (11216/25437) subjects were bearers of thalassemia variations, and 30.85% (7847/25437) subjects showed α-thal changes alone. Among the 23 genotypes with α-thal mutation alone, the three common genotypes were --SEA/αα(68.34%), -α3.7/αα(16.44%), and -α4.2/αα(6.38%). Of the 11.50% (2924/25437) subjects and 29 genotypes with β-thal mutation alone, the three common genotypes were βCD41-42/βN(36.22%), βIVS-II-654/βN(30.88%), and β-28/βN(13.47%). Additionally, of the 1.75% (445/25437) subjects and 55 genotypes showed both α- and β-thal mutations. We also identified 269 cases of Hb H and six patients of Hkαα. Furthermore, the common genotypes of α-thal and β-thal mutations were consistent with allele frequencies of mutations. Our study establishes molecular features of thalassemia among Hakka people in Heyuan. It will be useful for developing strategies to prevent thalassemia.
